Research Announcements

Below is information about research opportunities for your patients with inborn errors of metabolism.  If you would like to post about research in which you are conducting, please contact the GMDI Research Committee.

ClinicalTrials.Gov

Stay up to date on what research opportunities are available for your patients.

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Posted 6/5/25

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Posted January 9, 2025

Online Survey Study in MCADD Recruiting Participants in the US and Canada

Ultragenyx, in partnership with Lumanity, is conducting an online survey study in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCADD).

This survey study is being conducted to better understand the experiences of adult patients living with MCADD and caregivers of pediatric patients living with MCADD. Eligible participants will be paid $50 for completion of the online survey.

Do you treat or manage adult patients and/or caregivers of pediatric patients with MCADD who could be eligible for this study (please see below for inclusion/exclusion criteria)? If so, you can help with recruitment by:

• Informing adult patients and/or caregivers of pediatric patients with MCADD about this study; and
• Sharing the study link or QR code provided below with interested adult patients and/or caregivers of pediatric patients with MCADD

Who may qualify:

• Patients located in the US and Canada
• Adult patients (i.e. over the age of majority where they live) with a confirmed diagnosis of MCADD or legal guardians/primary caregivers of a pediatric patient (i.e. younger than the age of majority where they live) living with MCADD
• Participants able to read, write, and comfortably communicate in English
• Participants willing and able to participate in a 30-minute online survey
• Participants able to describe age the formal MCADD diagnosis was made
• Participants able to describe what event(s) led to a formal MCADD diagnosis
• Participants able to describe the speciality of the physician who provided a formal MCADD diagnosis
• If needed, participants able to participate in a phone screening to answer additional questions regarding their diagnostic journey or the diagnostic journey of the person living with MCADD

Who may not qualify

• Participants unable to understand the nature, scope, and consequences of the survey study and presents evidence of an uncooperative attitude
• Caregiver participant is paid to provide care for the person living with MCADD

We would appreciate if you would tell your patients and their caregivers to reach out to mcadd@lumanity.com if they are interested in participating.

Interested patients and caregivers can also scan the QR code below:

Download PDF Flyer

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Posted December 17, 2024 

The survey will remain open until January 3, 2025

Posted October 7, 2024

The OTC-HOPE study is a Phase 1/2 first-in-human clinical trial of ECUR-506 in newborn males with genetically confirmed neonatal onset OTC deficiency and will test differing dose levels of ECUR-506. The study is enrolling newborn males up to seven months of age who are diagnosed with severe neonatal onset OTC deficiency and meet certain other criteria. The primary objective is to assess the safety and tolerability of intravenous administration of a single dose of ECUR-506. It will also assess the pharmacokinetics and efficacy of ECUR-506 administration and the potential effects of ECUR-506 on disease-specific biologic markers, developmental milestones and quality of life.
iECURE’s approach to gene editing for its initial programs, including OTC deficiency, relies on the delivery of two adeno-associated virus (AAV) capsids, each carrying different payloads. ECUR-506 comprises two vectors, an ARCUS® nuclease vector targeting gene editing in the well-characterized PCSK9 gene locus and a donor vector that inserts the desired functional OTC gene. iECURE has licensed the ARCUS nuclease for ECUR-506 from Precision BioSciences. The cut in the PCSK9 site serves as the insertion site for the OTC gene, providing a potential path to permanent expression of a healthy gene. ECUR-506 is being studied in the OTC-HOPE study, the first clinical meganuclease-based in vivo gene insertion program. The ECUR-506 program is the first in vivo gene insertion program to be cleared in the U.S. for study in infants, and it represents the first time that the ARCUS® nuclease has been used to provide an in vivo insertion point for a functional gene in the clinic.

Click HERE to download flyer

For more information, visit https://otc-hope.com/

For additional questions, please reach out to medinfo@iecure.com

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Posted July 11, 2024

Dear Esteemed Colleagues,

We are excited to announce that our rare disease clinical trial center, Uncommon Cures (uncommoncures.com), is currently enrolling participants for the ARCT-810-04 study. This innovative Phase 2a trial is exploring the potential of ARCT-810, an investigational mRNA therapy designed to address the root cause of Ornithine Transcarbamylase (OTC) deficiency.

ARCT-810 utilizes mRNA as a template for producing the OTC enzyme in the liver, leveraging Arcturus's proprietary LUNAR® lipid nanoparticle technology for effective delivery. This open-label, multiple ascending dose study aims to evaluate the drug's pharmacodynamics, safety, and preliminary efficacy in restoring urea cycle function.

Eligibility Criteria:

• Adolescents and adults aged 12 and older
• Confirmed diagnosis of OTC deficiency
• Medical history of ammonia or glutamine elevations
• Currently on stable therapy and/or dietary interventions for OTC deficiency

Study Details:

• No placebo group involved
• Participants will receive 5 intravenous infusions of ARCT-810 every two weeks, at one of three dose levels
• Approximately 13 visits over a 16-week period, including a screening visit

Location: Uncommon Cures, Chevy Chase, Maryland

All study-related laboratory tests, medical exams, and travel are provided at no cost.

For any inquiries, please feel free to contact us at Arcturus@uncommoncures.com or Community@ArcturusRx.com.

Thank you.

Tamanna Roshan Lal, MB ChB
Sub-Investigator
Uncommon Cures
Chevy Chase, MD

Informational Flyer

Clinical Trial Flyer

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Posted January 22, 2024

Study now recruiting for adults living with PKU, with option to participate fully remotely!

Synlogic is conducting a novel research study with an orally administered medication titled: Efficacy and Safety of SYNB1934 in Patients with PKU (SYNPHENY-3).

This is a double blind, randomized, placebo control Phase-3 trial, and we are seeking participants. Our investigational medication labafenogene marselecobac (SYNB1934) is derived from the probiotic Escherichia coli Nissle 1917 (EcN) in a series of genetic manipulations. It is designed to allow enhanced degradation of Phe within the human gut before it enters the main circulation.

The Sympheny-3 study is currently recruiting participants. This is the first IEM trial offering a fully virtual option for patients, in addition to physical trial sites to increase diversity and accessibility. The study is being run by board-certified physicians and has been approved by the Advarra Institutional Review Board.

We are seeking your help in recruiting patients with PKU! We appreciate if you would tell your patients to visit: www.pkuresearchstudy.com.

Who may qualify:

• Adults 18 years and older at the time of consent
• Diagnosed with PKU and unable to maintain blood Phe levels below 360 micromol/L.
• Demonstrate an average Phe level >360 micromol/L from three blood samples prior to enrollment
• Patients taking concurrent PKU medications such as LNAA, Kuvan/sapropterin or sepiapterin are permissible and welcomed.
• Patients must remain stable on their dietary prescription during parts of the trial.

For more information on the study inclusion criteria, as well as contact information for the virtual or traditional study sites, visit ClinicalTrials.gov, study ID NCT05764239.

If you have questions, please reach out to Angela Kurtz, M.S., RD, CDN (angela.kurtz@synlogictx.com). We appreciate your support and interest in this study!

This above information is intended for HCPs only.

Please share the study link with interested patients.

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Posted December 6, 2023

Laura Sliwoski is a metabolic dietitian with Oregon Health & Science University in Portland, Oregon. She is studying how the national formula shortage affected metabolic dietitians and their patients with inborn errors of metabolism (IEM).

You are invited to participate in an online survey where you will answer questions about your experience during the formula shortage, including the added burden and stress of taking on additional work, the nutritional impacts on patients, and the strain on the patient-clinician relationship.

Dietitians who work with patients with an IEM within the United States are eligible to participate. The survey will take about 15 minutes to complete. As a thank you for your time and participation, you have the option to be entered in a raffle to win a $100 Visa gift card.

To learn more about the study, scan the QR code below or visit https://redcap.link/ayxtqo6j.   More Info

Additionally, there is a second survey to understand how the formula shortage affected patients with an IEM and their families. Patients with an IEM who are 18 years and older are eligible, as well as parents/caregivers of a child with an IEM who is less than 18 years of age. Parents/caregivers of an adult with an IEM who is decisionally impaired are also eligible to participate. The patient and parent/caregiver survey are available in English and Spanish. All participants will have the option to be entered in a raffle to win a $100 Visa gift card.

To share the patient and parent/caregiver survey with your patients, please have them scan the QR code below or visit https://redcap.link/6od39e6q.  More Info

For questions, or to speak with the study team, please call 503-494-3137. We appreciate your interest in this study!

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Posted October 18, 2023

The Midwest Genetics Network (MGN) is conducting a research project survey entitled “Assessing provider perspectives, needs and barriers to implementing trauma-informed care in medical clinics serving patients with genetic conditions” to assess trauma-informed care in medical clinics. We are looking for clinicians and healthcare providers who regularly provide care to individuals with diagnosed or suspected genetic conditions. This may include (but is not limited to) physicians, advanced practice providers (NPs, PAs), genetic counselors, and registered dieticians. The purpose of the survey is to assess the perspectives and experiences of genetic providers on trauma-informed care and any barriers to implementing trauma-informed protocols within their clinics. We greatly appreciate your participation in this survey. The information you provide will be used to inform the development of resources and guidance for implementing trauma-informed protocols and guidelines in genetics clinics in order to improve care for patients with genetic conditions.

 Your individual responses are confidential. The information gathered will be published in an aggregated summary. Genetic providers will receive a $10 Amazon e-gift card for participation. The survey will take about 15-20 minutes of your time.

 Additionally, you will be asked if you are interested in participating in a research project focus group to further discuss your experiences with trauma-informed care. A form at the end of the survey will be provided to enter your contact information to receive an additional $50 Amazon e-gift card and follow-up in the study. Information provided in the form will not be tied to your survey response. Please use this link to complete the survey:

Any questions can be directed to Kelsey Sala-Hamrick at ksalaham@mphi.org

The survey will remain open until February, 2024.

Study Flyer

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Posted September 18, 2023

Validation of the Phenylketonuria Symptom Severity and Impacts Scale (PKU-SSIS) v2.0 in Adolescents with PKU

BioMarin Pharmaceutical Inc. developed the Phenylketonuria Symptom Severity and Impacts Scale (PKU-SSIS), a self-administered disease-specific measure to understand the experience of people with PKU and its impacts on their everyday life. The PKU-SSIS Version 2.0 was recently adapted for adolescents (ages 12 to 17 years, inclusive) with PKU.  This study aims to conduct online surveys with 75 to 100 adolescents with PKU and their parents/guardians at two timepoints (10 to 14 days between timepoints) to validate the PKU-SSIS Version 2.0 for use in the adolescent PKU population.

 

Do you treat or manage adolescents with PKU who could be eligible for this study (please see who may or may not qualify below)? If so, you can help with recruitment by:

• Informing adolescents with PKU and their parents/guardians about the study; and
• Sharing the study link or QR code provided below with your adolescent with PKU and their parents/guardians.

Who may qualify:

• Adolescents (ages 12 to 17 years, inclusive) and their parent/guardian
• Adolescents diagnosed with PKU
• Adolescents and their parent/guardian who have access to internet and access to an electronic device (e.g., computer/laptop, tablet) to complete an online survey
• Adolescents currently managing their PKU with diet, medical food, or pharmacological therapy
• Adolescents and their parent/guardian who reside in the United States

Who may not qualify:

• Adolescents or their parent/guardian who have any limitation that might preclude them from participating in up to a 60-minute online survey
• Adolescents enrolled in Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria (PEGASUS)
• Adolescent or their parent/guardian who reside outside the United States

 

This above information is intended for HCPs only. Please share the study link or QR code with interested patients. 

https://tinyurl.com/PKUvalidationstudy

 

Clinical Outcomes Solutions, a healthcare research company, is conducting this study on behalf of BioMarin Pharmaceutical Inc. For any questions about the study or the survey link and QR code above, feel free to contact Natasha Schumacher at COSstudy@clinoutsolutions.com or by phone at +1 (520) 325-9510.

Please share the study link or QR code with interested patients. 

Click HERE to view PDF version of this information

 

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Posted May 17, 2023

PKU Study Recruiting Participants in the U.S

Do you have adolescent PKU patients who are eligible for this PKU Adolescent Pegvaliase study? If so, please help recruit by informing potential participants.

PEGASUS study (165-306): PEGvaliase: A Study of Use in adolescents

This clinical trial for adolescents with PKU is enrolling patients.  Please see below qualifications:

Who may qualify:

• Adolescents aged 12–17 years old (12 years of age at the time of consent)
• Diagnosed with PKU and unable to maintain blood Phe levels below 600 micromol/L their current prescribed treatment and prior sapropterin dihydrocholoride use
•  Average blood phe concentration > 600 micromol/L over the last 12 months
• Participants must have an adult caretaker (age 18 and older) willing to observe the participant during pegvaliase injection and for a minimum of 1 hour following all pegvaliase injections during the study period

Who does not qualify:

• Adolescents previously treated with pegvaliase
• Adolescents who have used any medication intended to treat PKU within 14 days of the start of pegvaliase
• Adolescents who are unable to identify and/or communicate to others that they are experiencing symptoms of potential anaphylaxis (a severe allergic reaction to the medication), due to cognitive impairment or other reasons Please speak with your child’s PKU healthcare team to find out more information

Links to the study website and to CT.gov with more information on the study inclusion criteria, as well as contact information for sites are listed below

 Study Website (link) - 165-306 Pegasus Study Website

 Link to Clinicaltrials.Gov (link) - Clinicaltrials.gov

 If you have questions, feel free to reach out to your BioMarin MSL or to Bridget Wardley (Bridget.wardley@bmrn.com)

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Posted May 1, 2023

Jnana Therapeutics is developing a novel, orally administered medication for the potential treatment of PKU. SLC6A19 is the neutral amino acid transporter which is responsible for reabsorption of Phe from the proximal renal tubule and absorption of Phe in the small intestine. JNT-517 is an investigational oral small molecule inhibitor of SLC6A19 and is designed to block renal Phe reabsorption resulting in potentially increased urinary Phe excretion.

A Phase 1b clinical trial (JNT517-101) is being conducted of JNT-517 to assess the safety, tolerability, and effect on urine and blood levels of neutral amino acids (including Phe). The study is enrolling approximately 28 participants with PKU across 14 sites in the U.S. and Australia.

Click HERE to download flyer.

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Posted March 2023

• NPKUA - Request for Proposals

Posted March 2023

Identification of linguistic markers revealing severity of symptoms in phenylketonuria:
A novel measurement tool for clinical trials

We are reaching out to inform you of a study being conducted by Susan Waisbren, PhD, a psychologist from Boston Children’s Hospital. The National PKU Alliance is funding this study, which is a collaboration among Boston Children’s Hospital, the PheFree Consortium, and scientists from IBM Watson Research, because it aligns with our mission of advancing research for the PKU Community.

Clinical trials in conditions affecting neurocognitive functioning usually require a single outcome measure that captures meaningful benefits of a novel therapy.  In endeavors to demonstrate effects of new treatments in PKU, such a measure has eluded investigators. This is due to the heterogeneous and subtle deficits associated with PKU. Dr. Waisbren aims to evaluate a standardized instrument used to quantify parameters of verbal discourse as a means to identify linguistic markers revealing severity of symptoms in PKU.  If successful, this study will provide the basis for further validation of a critical tool for demonstrating the benefit of novel treatments.

Dr. Waisbren will recruit 80 adults with PKU and 80 healthy adults without PKU (parents of children with PKU). All study activities, including a Zoom session, various questionnaires, and collection of a filter paper blood specimen (the latter in PKU patients only), will be conducted virtually.

If you are interested in this study for your adult patients with PKU or caregivers of your pediatric patients with PKU, please contact Dr. Susan Waisbren at Susan.Waisbren@childrens.harvard.edu or share the flyer with your patients.

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Posted October 2022

Patient-Centered Research Opportunity Aims to Personalize and Optimize Diet Treatment for Adults with Classical PKU

We are reaching out to inform you of a study being conducted by Dr. Shoji Yano, a clinical geneticist, and Kathryn Moseley, metabolic dietitian. The NPKUA is sponsoring the University of Southern California (USC) Keck School of Medicine in this research trial through our Research Grant Program because it meets the organization’s mission to improve the lives of adults with PKU.

This patient-partnered clinical trial is part of Dr. Yano and Kathryn Moseley’s ongoing research program with a broader goal to develop the long anticipated custom-tailored PKU diet treatment—to personalize and optimize the diet for adults.

The study aims to identify individual adults who may benefit clinically from addition of a large neutral amino acid (LNAA)-enriched medical food to their current diet plan. A body of evidence supports that additional dietary LNAAs block Phe uptake from blood to brain and improve neuropsychological function and quality of life in adult patients. Blood Phe concentrations, LNAA doses, and patient types most responsive to potential benefits of the dietary intervention are uncertain. This trial aims to clarify some of these unknowns.   

All study procedures are done from participants’ homes. A placebo-control randomized clinical trial N-of-1 research design provides all  participants with an individualized evidence-based evaluation of how well their current diet and blood levels are working for them, and whether the additional medical food may be more beneficial for them personally. Identifiable data will not be accessible to anyone until after the trial. At that time, only the participants, researchers, and the Institutional Review Board at USC will have access. Patients will be the first to receive their results when their study is completed, and they will choose whether they want to share the findings with their clinical teams.

The researchers plan to enroll 6 adults with classical PKU by December 15 with a January trial start date. Dietitians who are interested in the study for their adult patients with classical PKU, living in the U.S. with blood levels no higher than 900 µmol/L, are strongly encouraged to contact the Kathryn Moseley, M.S., R.D., Study Coordinator  kmoseley@usc.edu.

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Posted October 2022

Please help recruit participants in MMA and PA natural history study

Real-world natural history data are needed to better understand methylmalonic and propionic acidemia as potential new treatments are being developed.

JUMP (Journey to Understand MMA and PA) is a natural history study being conducted with rare disease online research platform AllStripes to accelerate the understanding of MMA and PA for all stakeholders – families, academia, clinicians, and industry.  JUMP is sponsored by HemoShear Therapeutics.

This short video from Kim Chapman explains the advantages of JUMP. 

Patients Participate From Home

It takes about 15-20 minutes for patients and caregivers to sign up for a private account authorizing AllStripes to retrieve and process medical records on their behalf at no cost to the patient.  Patients can access their records from their secure account.  With consent, AllStripes uses de-identified patient data to generate disease insights.

Please Contact Your Families About JUMP

Here Dr. Chapman explains who can sign up for JUMP and how you can help to enroll participants. 

 

Please contact your families with MMA and PA (up to 18 years of age) about joining JUMP.

You can download central IRB-approved flyers and a Q&A for you to share with families here:  https://hemoshear.com/jump

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February 2022:

 

Links: 

To learn more about the study or refer patients, please see clinicaltrials.gov (NCT04732429) to contact the nearest study site.

For families that want to learn more, the HERO website - mma-pahero.com - provides patient-friendly information For questions, please contact Chief Medical Officer Patrick Horn, MD, PhD at horn@hemoshear.com

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Arcturus is seeking participants ≥ 18 years of age with stable OTCD to take part in an ongoing clinical safety study of ARCT-810

Arcturus Therapeutics is developing a messenger RNA (mRNA) therapy for ornithine transcarbamylase deficiency (OTCD). Using mRNA is a new and fundamentally different approach to disease management than the use of traditional ammonia chelators and diet. The investigational ARCT-810 therapy contains mRNA with instructions to make fully functional OTC in the liver, thus addressing the root cause of OTCD with the potential to correct the urea cycle defect. mRNA technology uses lipid nanoparticles (LNPs) to protect the mRNA from degradation in the blood as it is distributed to the liver. The LNPs are designed to be taken up by hepatocytes and once inside the cell, they release the mRNA which can be translated to the OTC enzyme by the cells’ natural processes. Delivery of human OTC mRNA may help normalize ammonia and the other biochemical markers of ureagenesis.

This is an early Phase Ib single-dose study designed to assess the safety, tolerability and pharmacokinetics (metabolism and clearance) of ARCT-810. As such, participants who enroll must be adults with mild, stable OTC disease and good cognitive function. This may include women with only one OTCD gene (heterozygous). The information obtained from this study may allow the progression of ARCT-810 into studies of younger and sicker patients with OTCD. ARCT-810 is not a gene therapy, i.e., there is no alteration of the recipient’s genes and there are no viral components.

For more information about the Phase Ib clinical trial of ARCT-810 visit the study page on ClinicalTrials.gov: https://www.clinicaltrials.gov/ct2/show/NCT04442347?term=Arcturus&draw=2&rank=3

If you have questions or need help contacting one of the participating academic sites, please contact Manely Yafeh at manely@arcturusrx.com

David Geller, M.D. davidg@arcturusrx.com Vice President Pulmonary & Rare Diseases Arcturus Therapeutics     

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Posted May 2020:

Updated list of clinical trials