Recruiting Studies

Below is a list of our actively recruiting studies and clinical trials. If you're interested in participating, please register through our site here.

PKU: JNT517-301

Short Summary:

This Phase 3 clinical trial is evaluating the safety and effectiveness of an investigational treatment called repinatrabit (JNT-517) for adults with PKU (Phenylketonuria). Approximately 120 participants will take part in the study, which includes a screening period of up to 35 days to confirm eligibility and dietary stability, followed by up to 14 months of study participation.

Who May Qualify:

• Adults 18 years of age or older
• Individuals diagnosed with Phenylketonuria (PKU)
• Body weight greater than 40 kg
• Not currently receiving pegvaliase treatment or have stopped pegvaliase at least 4 weeks prio

Contacts:

Register on our site here

Additional Information:

Please see the clinical trials page at clinicaltrials.gov

NPC GM1 GM2: AZ-3102 (AZA-001-301)

Short Summary:

This Phase 3 clinical trial is evaluating the safety and effectiveness of an investigational oral medication called nizubaglustat (AZ-3102) for children and young people living with certain rare genetic conditions, including Niemann-Pick type C disease, GM1 gangliosidosis, and GM2 gangliosidosis. The study will take place over approximately 18 months and will compare nizubaglustat to a placebo to better understand how the treatment may help manage these conditions.

Who May Qualify:

You or your child may qualify for this study if you:

Are 4 years of age or older
Have a confirmed diagnosis of Niemann-Pick type C (NPC), GM1 gangliosidosis, or GM2 gangliosidosis
Are unable or unwilling to take miglustat
Have genetic testing results confirming the diagnosis through disease-causing genetic variants identified by the study team

Contacts:

Register on our site here

Additional Information:

Please see the clinical trials page at clinicaltrials.gov

Noonan Syndrome: BMN111-211

Short Summary:

This Phase 2 clinical trial is studying an investigational medication called vosoritide in children with Noonan syndrome who have experienced limited growth during or after treatment with human growth hormone (hGH). Researchers are evaluating the safety of different dosing options and how well the medication may help support growth, including its potential impact on final adult height.

Who May Qualify:

Your child may qualify for this study if they:

Are between 3 and 11 years old (girls) or 3 and 12 years old (boys)
Have a confirmed diagnosis of Noonan syndrome
Are shorter than expected for their age and sex and have experienced limited growth despite current or previous growth hormone treatment
Have not yet started puberty at the time of study enrollment

Contacts:

Register on our site here

Additional Information:

Please see the clinical trials page at clinicaltrials.gov

Additional Recruiting Studies

Below you can view additional recruiting studies from other organizations:

17q12 CNVs Study

Learn About PRISMA's study at the University of Alberta

Learn More

Individuals diagnosed with 17q12 CNVs (both the duplication and the deletion)

Between the ages of 6 months and 90 years

Fully remote

Recruiting internationally

The overarching goal of the study is to develop a medical and psychiatric blueprint for those who are diagnosed with 17q12 CNVs (both the duplication and the deletion), which can be used to create precision medicine approaches in the future. This study is REB approved through the University of Alberta and takes approximately 6 hours to complete, broken down over multiple smaller sessions. It is designed to be fully remote, with medical and family history interviews completed over zoom. Learn more on PRISMA's website.

Now Enrolling:

PALomino Pregnancy Observational Safety Study

Learn More: Patients

Learn More: Physicians

PALomino is a global observational safety study sponsored by BioMarin Pharmaceutical Inc. to assess maternal, fetal, and infant outcomes in women exposed to Pegvaliase during pregnancy and breastfeeding. You may qualify for the study if you have taken Pegvaliase at any time during your pregnancy.

Recruiting Studies

PKU: JNT517-301

Short Summary:

Who May Qualify:

Contacts:

Additional Information:

NPC GM1 GM2: AZ-3102 (AZA-001-301)

Short Summary:

Who May Qualify:

Contacts:

Additional Information:

PKU: Palynziq Registry (Biomarin 165-504)

Learn more about one of our latest studies Pegvaliase: a global, multicenter study to assess maternal, fetal and infant outcomes of exposure to Palynziq® (pegvaliase) during pregnancy and breastfeeding. Read more about the study on the M.A.G.I.C. Clinic's website.

Noonan Syndrome: BMN111-211

Short Summary:

Who May Qualify:

Contacts:

Additional Information:

Pompe Registry

Register on our site to learn more.

Fabry: CFDI Registry

Register on our site to learn more.

Gaucher Registry

Register on our site to learn more.

Fabry Registry

Register on our site to learn more.

Below you can view additional recruiting studies from other organizations:

Individuals diagnosed with 17q12 CNVs (both the duplication and the deletion)

Between the ages of 6 months and 90 years

Fully remote

Recruiting internationally

PALomino is a global observational safety study sponsored by BioMarin Pharmaceutical Inc. to assess maternal, fetal, and infant outcomes in women exposed to Pegvaliase during pregnancy and breastfeeding. You may qualify for the study if you have taken Pegvaliase at any time during your pregnancy.

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