Clinical trials: Inborn Errors of Metabolism Disorders
Gaucher Disease
Identification of Undiagnosed Gaucher Disease
Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient encounters at Partners HealthCare facilities.
- Trial name
- NCT01716741
- Testing
- Enzyme analysis
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Brigham and Women's Hospital
Mitochondrial Disease
Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
N-Acetylcysteine (NAC), an anti-oxidant, will be studied to investigate the effects on brain glutathione levels, cognitive skills, motor skills, and quality of life.
- Trial name
- NCT05241262
- Testing
- N-Acetylcysteine
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Michio Hirano, MD
Lipodystrophy, Generalized Lipodystrophy (GLD)
Compassionate Use or Expanded Access of Mibavademab
Provide Expanded Access to REGN4461 for patients with diseases associated with deficient leptin signaling.
- Conditions
- Lipodystrophy, Generalized Lipodystrophy (GLD), Monogenic Obesity (MOB)
- Trial name
- NCT04710056
- Testing
- REGN4461
- Sponsor
- Regeneron Pharmaceuticals
Tyrosinemia, AKU
Evaluation of TYR Sphere in France
10 participants aged 3 years and over with tyrosinaemia or alkaptonuria will be prescribed Tyr sphere following an assessment of their individual needs by their dietitian.
- Trial name
- TYR sphere Fra (NCT04761588)
- Testing
- Tyr sphere
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Vitaflo International, Ltd
Phenylketonuria
Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria
OBJECTIVES: I. Assess the impact of a phenylalanine restricted diet during pregnancy on symptoms in offspring of patients with phenylketonuria.
- Trial name
- NCT00006142
- Testing
- phenylalanine restricted diet
- Sponsor
- National Center for Research Resources (NCRR)
Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism
Growing up With the Young Endocrine Support System (YESS!)
Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out…
- Conditions
- Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism, Growth Hormone Deficiency, Combined Pituitary Hormone Deficiency
- Trial name
- YESS (NCT04252001)
- Testing
- YESS! game, Snake '97, Transition-toolkit
- Where
- 7 sites in Belgium, Netherlands and 2 more
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Bone Marrow Failure Syndrome, Severe Aplastic Anemia
CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
This study's goal is to determine the frequency and severity of acute graft versus host disease, to evaluate incidence of primary and secondary graft rejection, to assess event free survival and overall survival, to determine the…
- Conditions
- Bone Marrow Failure Syndrome, Severe Aplastic Anemia, Severe Congenital Neutropenia, Amegakaryocytic Thrombocytopenia
- Trial name
- NCT01966367
- Testing
- CD34 Stem Cell Selection Therapy
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Diane George
Homozygous Familial Hypercholesterolemia
A Study of ALN-PCSSC in Participants With Homozygous Familial Hypercholesterolemia (HoFH)
The purpose of this study is to assess the safety, tolerability, and efficacy of ALN-PCSSC in participants with homozygous familial hypercholesterolemia.
- Trial name
- ORION-2 (NCT02963311)
- Testing
- ALN-PCSSC, Standard of Care
- Where
- 3 sites in United States, Netherlands and 1 more
- Volunteers
- 9 people
- Sponsor
- The Medicines Company
Phenylketonurias, Nutritional and Metabolic Diseases
Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients
Phenylketonuria is a rare metabolic disease that results from the absence or near-absence activity of the enzyme phenylalanine hydroxylase, which metabolizes the amino acid phenylalanine to tyrosine in the body.
- Trial name
- NCT04969809
- Testing
- Ultrasound of the jugular veins, addition of phenylalanine-free protein substitutes
- Volunteers
- 50 people
- Sponsor
- University Medical Centre Ljubljana
Multiple Anomalies, Dysmorphic Features
Evaluating Face-Recognition Technology in Syndrome Diagnosis
Birth defects are relatively common, occurring in 1 in 40 live born babies. They can be single, or multiple. They may occur as part of multiple malformation syndromes, often in association with growth disturbance or intellectual…
- Conditions
- Multiple Anomalies, Dysmorphic Features, Inborn Errors of Metabolism
- Trial name
- NCT04709965
- Testing
- Face2Gene
- Where
- United Kingdom
- Volunteers
- 111 people
- Sponsor
- Manchester University NHS Foundation Trust
MPS III B
Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLE
This is a Phase 3B/4, multicenter, multinational, open label study to further evaluate intracerebroventricular (ICV) delivered AX 250 treatment in MPS IIIB subjects that complete Study 250-202 for up to an additional 3 years (144…
- Trial name
- NCT05492799
- Testing
- AX 250
- Where
- 6 sites in United States, Colombia and 3 more
- Volunteers
- 15 people
- Sponsor
- Allievex Corporation
Milk Intolerance
Effects of A2 Milk on Gastrointestinal Function in Non-lactose Milk Intolerance
There is increasing evidence that a number of people experience moderate milk intolerance characterised by increased gas production, bloating and abdominal cramp, which can neither be attributed to lactose intolerance, nor to…
- Trial name
- NCT03060395
- Testing
- A2 milk 100, A2 milk 150, A2 milk 200
- Where
- United Kingdom
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- University of Reading
Hypophosphatasia
Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan
This is a multicenter study in Japan. Eleven sites which have already participated in the investigator-initiated clinical study (Early Access Program) will participate in this study.The objective of this study is to gain further…
- Trial name
- NCT02531867
- Testing
- Asfotase Alfa
- Volunteers
- 13 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Hypercholesterolemia, Familial
Bone Marrow Stem Cells as a Source of Allogenic Hepatocyte Transplantation in Homozygous Familial Hypercholesterolemia
Patients with homozygous familial hypercholesterolemia has very high serum cholesterol levels despite receiving lipid lowering drugs (e.g. statins, etc).
- Trial name
- NCT00515307
- Testing
- Cellular transplantation
- Where
- Iran
- Volunteers
- 1 people
- Sponsor
- University of Tehran
Gout
Study of of URC102 to Assess the Efficacy and Safety in Gout Patients
To confirm the safety and efficacy (dose response and optimal dose according to the serum uric acid response rate) of URC102 when orally-administered to patients with gout and gout-related hyperuricemia in comparison with…
- Trial name
- URC102 (NCT04804111)
- Testing
- arm 0, arm 1, arm 2
- Where
- 2 sites in South Korea
- Volunteers
- 171 people
- Sponsor
- JW Pharmaceutical
Niemann-Pick Disease, Type C1
Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann-Pick Disease Type C
The purpose of this study is to provide continued access to treatment for NPC-1 after participation and completion of the Phase I trial CTD-TCNPC-101, when administered at doses of 1500 mg/kg and 2500 mg/kg by slow IV infusion…
- Trial name
- NCT03893071
- Testing
- Hydroxypropyl-β-cyclodextrin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Cyclo Therapeutics, Inc.
Primary Hypercholesterolemia, Mixed Hyperlipemia
Study of SHR-1209 in the Treatment of Hypercholesterolemia and Hyperlipidemia Ⅲ Stage
The study is ongoing to evaluate the efficacy and safety of SHR-1209 in patients with hypercholesterolemia and hyperlipemia.
- Trial name
- NCT04849000
- Testing
- SHR-1209
- Where
- China
- Volunteers
- 709 people
- Sponsor
- Jiangsu HengRui Medicine Co., Ltd.
Amyloid Cardiomyopathy, Transthyretin Amyloid Cardiomyopathy
Artificial Intelligence to Assist the Echocardiographic Identification of Transthyretin Cardiac Amyloidosis
The goal of this study is to develop an algorithm using artificial intelligence (AI) to assist identification of potential ATTR-CM cases using routine transthoracic echocardiography.
- Conditions
- Amyloid Cardiomyopathy, Transthyretin Amyloid Cardiomyopathy, Transthyretin Cardiac Amyloidosis
- Trial name
- AI-ATTR-ECHO (NCT06328075)
- Testing
- non interventional study
- Where
- France
- Volunteers
- 15,000 people
- Sponsor
- Algalarrondo Vincent
Peroxisomal Disorders, Diagnoses Disease
Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases
The principal aim of the study is to avoid the diagnostic wanderings of patients suffering from a peroxisomal disorder. For this purpose, a new diagnostic strategy is proposed.
- Trial name
- PEROXY4G (NCT03163771)
- Where
- 4 sites in France
- Volunteers
- 8 people
- Sponsor
- University Hospital, Lille
Hypercholesterolemia, Familial, Hypercholesterolemia, Familial, 1
Genetic Testing and Motivational Counseling for FH
To date, there are highly effective lipid-lowering drugs, the combination of which makes it possible to achieve the target level of LDL-C in most patients with familial hypercholesterolemia (FH).
- Conditions
- Hypercholesterolemia, Familial, Hypercholesterolemia, Familial, 1, Hypercholesterolemia, Familial, 2, Hypercholesterolemia, Familial, 3
- Trial name
- GENMOTIV-FH (NCT04656028)
- Testing
- Genetic Testing, Motivational Counseling, Lipid analysis
- Where
- Russia
- Volunteers
- 180 people
- Sponsor
- National Medical Research Center for Therapy and Preventive Medicine