Exceptional Care for an Uncommon Condition

Capital Institute for Neurosciences Treats International Patients with Rare Neurogenetic Disorder

Karine and Stephane Clouet were concerned when they first noticed that their infant son, Nolan, was unable to hold his head up on his own. From Teillay, in northwestern France, the worried parents initially thought Nolan was suffering from a muscular issue in his neck and sought the advice of local physicians. A battery of tests followed, and Nolan was ultimately diagnosed with Canavan disease at the age of nine months. After learning the diagnosis, the Clouet family faced another challenge—they could not find a doctor in France who had experience with Nolan’s condition.

Clouet Family

Karine and Stephane Clouet along with their sons at a
recent visit to Capital Health Medical Center – Hopewell. 

There is no cure for Canavan disease, and for the Clouet family, this is a reality with which they are all too familiar. Although Nolan passed away in March 2017 at age seven, Karine and Stephane continue to visit Capital Health with other families and raise awareness about Canavan disease.

Paola Leone, PhD, director of the Cell and Gene Therapy Center at Rowan University has been instrumental in connecting these families to Dr. Mitra Assadi, director of Pediatric Neurology at Capital Institute for Neurosciences. Dr. Assadi is an experienced researcher and an internationally recognized expert in treating Canavan disease and a range of pediatric neurological disorders.

What is Canavan Disease?

Part of a group of genetic disorders called leukodystrophies, Canavan disease is a rare inherited condition that interferes with the growth of the myelin sheath, the covering that protects the nerves in the brain and is essential to a properly functioning nervous system. Children with Canavan disease experience progressive degeneration of the brain. Canavan disease occurs in people of all ethnic backgrounds, but is most common in people of Ashkenazi Jewish descent and those in Saudi Arabia.

What are the symptoms?

There may be no visible symptoms during the first few months of life, but developmental issues usually occur at three to five months:

  • Inability to turn over or sit without support
  • No control of head movement or eye tracking
  • Undeveloped motor skills
  • Spasticity
  • Feeding and swallowing difficulties
  • Weak muscle tone
  • Irritability
  • Seizures
  • Sleep difficulties
  • Macrocephaly (unusually large head size)

From Diagnosis to Treatment

Soon after Loan Beafauchet was born in Alsace, France, his parents (Claudine and Gaël) noticed he was having difficulty breastfeeding. A series of brain scans showed that white matter in his brain was not developed at five months of age. The family’s doctor was unable to make a diagnosis despite apparent issues with Loan’s development.

Clouet, Beafauchet, and Moinier Families

The Beafauchet, Clouet, and Moinier families
along with their sons and a photo of Nolan Clouet.

“For physicians unfamiliar with Canavan disease, making an accurate diagnosis can be exceptionally challenging,” said Dr. Assadi. “For those children and their families who have been subjected to many tests and procedures, bringing an end to their diagnostic odyssey can provide some comfort.”

How is Canavan disease diagnosed?

  • MRI scan: detects degeneration of the brain’s white matter.
  • Urine/blood/cerebrospinal fluid test: heightened levels of N-acetyl-L-aspartate (NAA) in these fluids indicates Canavan disease.
  • Genetic testing: looks for mutations linked to Canavan disease

Prenatal genetic diagnosis is also possible, and parents can also be screened to see if they are carriers of the disease.

Treatment is typically palliative or comforting in nature and may include:

  • Lithium – a neuroprotective agent that helps reduce elevated NAA levels
  • Botox – to relieve spasticity and help prevent subsequent deformity
  • Anti-seizure medication
  • Gene therapy

Children with Canavan disease usually don’t reach age 10, though some may survive into their teens or twenties. At age 14, Loan is the oldest Canavan patient Dr. Assadi has treated. But Claudine says Dr. Assadi’s care goes well beyond prescriptions. “So few know or understand the disease,” said Claudine. “The real help is the comfort, advice, and support she provides us.”

Vanessa and Sebastien Moinier agree. During Vanessa’s pregnancy with son Noa, doctors detected issues that they thought were caused by a stroke. Noa went through a number of surgeries in the months after birth in efforts to improve his quality of life before a neurologist ordered genetic testing for him and his parents. Noa was diagnosed with Canavan disease at nine months. He is now 8 ½ years old.

“We’re just trying to make our child comfortable,” said Vanessa. “Dr. Assadi helps us understand how to better help Noa in everyday life.”

Innovative Care for Complex Neurological Conditions

“Individually, disorders such as Canavan disease are rare, but collectively leukodystrophies are fairly common,” said Dr. Assadi. “Specialists at Capital Institute for Neurosciences are ready to assist families who can’t find help with rare neurogenetic disorders or other complex neurological condition.”

Clouet, Beafauchet, and Moinier Families & Dr. Assadi

Dr. Mitra Assadi, director of Pediatric Neurology at Capital Institute for
Neurosciences, along with the Beafauchet, Clouet, and Moinier families.

Physicians at Capital Institute for Neurosciences recognize the importance of remaining at the forefront of care and are involved in a variety of research studies. Patients at the Institute also benefit from a multi-disciplinary team of specialists who diagnose and treat a wide range of complex brain and spinal diseases. To learn more about the Capital Institute for Neuroscience, visit capitalneuro.org.

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