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Progeria clinical trials

View clinical trials related to Progeria.

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NCT ID: NCT05953857 Not yet recruiting - Penttinen Syndrome Clinical Trials

Knowing and Treating Kosaki/Penttinen Syndromes

IKKoPeS
Start date: October 2023
Phase:
Study type: Observational

Kosaki overgrowth syndrome (KOGS) and Penttinen syndrome (PS) are extremely rare multisystem disorders caused by heterozygous activating variants of the PDGFRB gene. KOGS results in characteristic craniofacial, orthopedic, skin and neurological disorders. PS is a progeroid disease responsible for a prematurely aged appearance. Patients suffer significant morbidity and mortality due to various complications. Tyrosine Kinase Inhibitors (TKIs) targeting PGDFRB appear to be a potential treatment option, as evidenced by a few case reports showing clinical improvement in some patients, with modest and self-resolving side effects. The natural history of these two syndromes remains poorly understood as only case-reports have been published. Therefore, an international consortium was created in December 2019 by Pr FAIVRE (CHU Dijon Bourgogne & ERN ITHACA) to follow treated and untreated patients in a real-life, multicentre, observational study, in order to expand our knowledge of these ultra-rare diseases. In the longer term, we believe that TKIs could bring clinical benefit to KOGS/PS patients.

NCT ID: NCT04512963 Completed - Clinical trials for Hutchinson-Gilford Progeria Syndrome

Phase I Study of Progerinin in Healthy Volunteers

Start date: August 24, 2020
Phase: Phase 1
Study type: Interventional

PRG-PRO-001 is a Phase I, Randomized, Double-blind, Placebo-Controlled, Single Ascending Dose (SAD) Study including a food interaction study, followed by a Multiple Ascending Dose (MAD) Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamic Profile of Progerinin in Healthy Volunteers. This is a first-in-human study. The study aims to determine the safety and tolerability of Progerinin after single and multiple doses in healthy volunteers and to evaluate the pharmacokinetics (PK) of Progerinin after single and multiple dose administrations in healthy volunteers.

NCT ID: NCT03895528 Approved for marketing - Progeria Clinical Trials

Lonafarnib for Patients With Hutchinson-Gilford Progeria Syndrome or Progeroid Laminopathy

Start date: n/a
Phase:
Study type: Expanded Access

This treatment IND protocol will allow patients with HGPS and progeroid laminopathies access to lonafarnib, the only compound shown to have an effect on the HGPS disease process resulting in improved outcomes (Gordon et al, 2018). There are no approved treatments for HGPS and progeroid laminopathies.

NCT ID: NCT03871972 Completed - Clinical trials for Hutchinson-Gilford Progeria Syndrome

Umbilical Cord Blood Transfusion in Progeria Syndrome

Start date: March 5, 2019
Phase: Phase 1/Phase 2
Study type: Interventional

This is a pilot study on safety and efficacy of umbilical cord blood therapy for patients with Hutchinson Gilford Progeria syndrome (HGPS). This is an 1 year trial with 3 IV infusions (4 months apart from each infusion) of umbilical cord blood units with oral Sirolimus to see the safety and efficacy.

NCT ID: NCT02579044 Enrolling by invitation - Progeria Clinical Trials

Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria

Start date: December 2015
Phase: Phase 1/Phase 2
Study type: Interventional

This is a phase I/II dose-escalation trial of everolimus in combination with lonafarnib in Hutchinson-Gilford Progeria Syndrome (HGPS) and progeroid laminopathies (henceforth "progeria"). The study will be conducted at a single clinical site utilizing the Clinical and Translational Study Unit (CTSU) at Boston Children's Hospital. Lonafarnib will be administered at doses previously established in the pediatric population and in this population of progeria subjects. This study will first determine the dose-limiting toxicities (DLT) and the maximum tolerated dose (MTD) of everolimus when administered in combination with lonafarnib. It will then determine the efficacy of everolimus when administered at its MTD in combination with lonafarnib for disease in progeria.

NCT ID: NCT00916747 Active, not recruiting - Progeria Clinical Trials

Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria

Start date: August 2009
Phase: Phase 2
Study type: Interventional

Hutchinson-Gilford Progeria Syndrome (Progeria) is a rare autosomal disease that results in premature death at a median age of 13 years due to cardiovascular and cerebralvascular compromise. The mutation for this disease has been identified and results in a mutant form of lamin A that cannot be de-farnesylated. This study evaluates the combination of pravastain (a statin), lonafarnib (a farnesyltransferase inhibitor) and zoledronic acid (a bisphosphonate) in an open label phase II efficacy trial in children with Progeria. These agents all target farnesylation pathways at different points. Patients with genetically confirmed progeria will be eligible for this protocol. Treatment will be initiated for 24 months duration. Clinical and biologic parameters will be examined to assess response.

NCT ID: NCT00879034 Completed - Progeria Clinical Trials

A Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria

Start date: March 2009
Phase: Phase 2
Study type: Interventional

This is an open label single arm feasibility trial. A combination of two oral agents (pravastatin and lonafarnib) and one intravenous (IV) agent (zoledronic acid) will be administered at doses and schedule currently applied in pediatrics. These agents all target farnesylation pathways at different points. Our goal is to inhibit farnesylation of abnormal lamin, the disease-causing protein in Hutchinson-Gilford Progeria Syndrome and progeroid laminopathies (henceforth "progeria"). The drugs will include the intravenous bisphosphonate zoledronic acid, oral HMG co-reductase inhibitor pravastatin and the oral farnesyltransferase inhibitor (FTI) lonafarnib (SCH 66336). Patients with genetically confirmed progeria will be eligible for this protocol. Treatment will be initiated for 4 weeks duration and may be extended depending on tolerability. This study will assess the feasibility of this treatment regimen in the first 4 weeks. If tolerated for 4 weeks, patients can be treated with this regimen for up to 6 months.

NCT ID: NCT00731016 Completed - Clinical trials for Hutchinson-Gilford Progeria Syndrome

Treatment of the Hutchinson-Gilford Progeria Syndrome With a Combination of Pravastatin and Zoledronic Acid

Start date: October 2008
Phase: Phase 2
Study type: Interventional

We suggest treating the Hutchinson-Gilford Progeria Syndrome by two molecules (zoledronic acid and pravastatin).The therapeutic approach which we propose has for objectives to reduce, to prevent or to delay the gravest infringements of the disease, to prolong the life of the children, and in a more general way, aim at improving their living conditions.

NCT ID: NCT00425607 Completed - Progeria Clinical Trials

Phase II Trial of Lonafarnib (a Farnesyltransferase Inhibitor) for Progeria

Start date: May 2007
Phase: Phase 2
Study type: Interventional

This is an open label dose adjusted phase II trial of the oral farnesyltransferase inhibitor (FTI) lonafarnib (SCH66336) for patients with HGPS and progeroid laminopathies.

NCT ID: NCT00094393 Completed - Progeria Clinical Trials

Clinical Studies of Progeria

Start date: October 14, 2004
Phase:
Study type: Observational

This study will examine children with Hutchinson-Gilford Progeria syndrome, a genetic disease that causes many changes to the body over time, including heart disease, bone changes, hair loss, and joint and skin changes. Often called a "premature aging" disease, progeria does not mimic aging completely. This study will examine which body systems are affected in progeria and how each system is affected over time in order to try to develop new treatments. Patients with progeria who are between 6 months and 70 years of age and who are able to travel to the NIH in Bethesda, Md., may be eligible for this 5- to 10-year study. Participants come to the NIH Clinical Center for evaluation every 2 years. Each 4-5 day visit includes the following tests and procedures: - Medical history and physical examination - Blood tests to analyze cardiovascular risk factors, blood counts, blood chemistries, and for research - Urine tests for sugar and proteins - Photographs to study growth problems - X-ray studies to determine bone density and body composition, such as body fat and muscle - Electrocardiogram (EKG) and echocardiogram (heart ultrasound) to study the heart and blood vessels - Lung function tests to measure energy consumption and lung capacity - Skin biopsy (surgical removal of a small skin sample) to examine cellular changes - Hearing tests - Eye examination to evaluate eyesight, eye pressure and structures of the eye - Physical therapy evaluation with stretching and exercises to measure how the joints bend and straighten - Dental examination, including X-rays - Meeting with a nutritionist who will track the patient's food intake and take body measurements - Magnetic resonance imaging (MRI) for patients who are old enough to undergo the procedure without sedation. This test uses a magnetic field and radio waves to examine body organs. For this test, the patient must lie still in the scanner, a narrow cylindrical tube. Patients are provided the results of their medical tests. Information about the patient is submitted to the PRF Cell and Tissue Bank in Peabody, Massachusetts.